Background This study investigated the efficacy and safety of nusinersen,an antisense oligonucleotide,in patients with spinal muscular atrophy(SMA)types II(OMIM:253,550)or III(OMIM:253,400),including those with severe...Background This study investigated the efficacy and safety of nusinersen,an antisense oligonucleotide,in patients with spinal muscular atrophy(SMA)types II(OMIM:253,550)or III(OMIM:253,400),including those with severe scoliosis or requiring respiratory support via mechanical ventilation.Methods Data from 40 patients with genetically confirmed SMA who were treated with nusinersen at our institute from March 2019 to April 2022 were retrospectively analyzed.Of these,30 patients with an age of onset<3 years and not on permanent ventilation were selected.Clinical and genetic characteristics were investigated,and motor function was evaluated based on the Hammersmith Functional Motor Scale-Expanded(HFMSE)score.Results The mean age of symptom onset was 1.2 years.Most patients were diagnosed with SMA type II(27/30,90%).Nusinersen was administered via computed tomography-guided or direct intrathecal injection in 87%(26/30)and 13%(4/30)of the patients,respectively.At the 6-,14-,22-,and 26-month follow-ups,72%,71%,88%,and 86%of patients showed motor improvement,respectively,with mean changes in HFMSE scores of 2.10,2.88,4.21,and 5.29,respectively.Multivariable analysis showed that the use of noninvasive ventilation was associated with poorer outcomes of motor function.Conclusions Patients with SMA type II or III who received nusinersen treatment showed significant improvement in motor function.A longer treatment duration led to a higher number of patients with improved motor function.No significant side effects of nusinersen were observed.Patients with SMA,even those with severe scoliosis or on respiratory support,can be safely treated using nusinersen.展开更多
文摘Background This study investigated the efficacy and safety of nusinersen,an antisense oligonucleotide,in patients with spinal muscular atrophy(SMA)types II(OMIM:253,550)or III(OMIM:253,400),including those with severe scoliosis or requiring respiratory support via mechanical ventilation.Methods Data from 40 patients with genetically confirmed SMA who were treated with nusinersen at our institute from March 2019 to April 2022 were retrospectively analyzed.Of these,30 patients with an age of onset<3 years and not on permanent ventilation were selected.Clinical and genetic characteristics were investigated,and motor function was evaluated based on the Hammersmith Functional Motor Scale-Expanded(HFMSE)score.Results The mean age of symptom onset was 1.2 years.Most patients were diagnosed with SMA type II(27/30,90%).Nusinersen was administered via computed tomography-guided or direct intrathecal injection in 87%(26/30)and 13%(4/30)of the patients,respectively.At the 6-,14-,22-,and 26-month follow-ups,72%,71%,88%,and 86%of patients showed motor improvement,respectively,with mean changes in HFMSE scores of 2.10,2.88,4.21,and 5.29,respectively.Multivariable analysis showed that the use of noninvasive ventilation was associated with poorer outcomes of motor function.Conclusions Patients with SMA type II or III who received nusinersen treatment showed significant improvement in motor function.A longer treatment duration led to a higher number of patients with improved motor function.No significant side effects of nusinersen were observed.Patients with SMA,even those with severe scoliosis or on respiratory support,can be safely treated using nusinersen.
文摘A 2-month-old girl presented facial dimorphism,including frontal bossing,hypertelorism,a broad nasal bridge,low-set ears,hypotonia with mild spasticity,and mild thrombocytopenia.Her head circumference was 40.8 cm(75-90 percentile).There was no relevant perinatal history.
